Please use this identifier to cite or link to this item:
http://bura.brunel.ac.uk/handle/2438/26824
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.advisor | Print-Electronic | - |
dc.contributor.author | Samra, K | - |
dc.contributor.author | MacDougall, AM | - |
dc.contributor.author | Bouzigues, A | - |
dc.contributor.author | Bocchetta, M | - |
dc.contributor.author | Cash, DM | - |
dc.contributor.author | Greaves, CV | - |
dc.contributor.author | Convery, RS | - |
dc.contributor.author | van Swieten, JC | - |
dc.contributor.author | Jiskoot, L | - |
dc.contributor.author | Seelaar, H | - |
dc.contributor.author | Moreno, F | - |
dc.contributor.author | Sanchez-Valle, R | - |
dc.contributor.author | Laforce, R | - |
dc.contributor.author | Graff, C | - |
dc.contributor.author | Masellis, M | - |
dc.contributor.author | Tartaglia, MC | - |
dc.contributor.author | Rowe, JB | - |
dc.contributor.author | Borroni, B | - |
dc.contributor.author | Finger, E | - |
dc.contributor.author | Synofzik, M | - |
dc.contributor.author | Galimberti, D | - |
dc.contributor.author | Vandenberghe, R | - |
dc.contributor.author | de Mendonça, A | - |
dc.contributor.author | Butler, CR | - |
dc.contributor.author | Gerhard, A | - |
dc.contributor.author | Ducharme, S | - |
dc.contributor.author | Le Ber, I | - |
dc.contributor.author | Tiraboschi, P | - |
dc.contributor.author | Santana, I | - |
dc.contributor.author | Pasquier, F | - |
dc.contributor.author | Levin, J | - |
dc.contributor.author | Otto, M | - |
dc.contributor.author | Sorbi, S | - |
dc.contributor.author | Rohrer, JD | - |
dc.contributor.author | Russell, LL | - |
dc.date.accessioned | 2023-07-11T07:17:07Z | - |
dc.date.available | 2023-07-11T07:17:07Z | - |
dc.date.issued | 2023-06-10 | - |
dc.identifier | ORCID iD: Martina Bocchetta https://orcid.org/0000-0003-1814-5024 | - |
dc.identifier | 120711 | - |
dc.identifier.citation | Samra, K. et al on behalf of theGenetic FTD Initiative (GENFI) (2023) 'Prodromal language impairment in genetic frontotemporal dementia within the GENFI cohort', Journal of the Neurological Sciences, 120711, pp. 1 - 11. doi: 10.1016/j.jns.2023.120711. | en_US |
dc.identifier.issn | 0022-510X | - |
dc.identifier.uri | https://bura.brunel.ac.uk/handle/2438/26824 | - |
dc.description | Data availability: The datasets used and/or analysed during the current study are available from the corresponding author on reasonable request. | en_US |
dc.description | Supplementary data are available online at https://www.sciencedirect.com/science/article/pii/S0022510X23001727?via%3Dihub#s0100 . | - |
dc.description.abstract | Copyright © 2023 The Authors. Objective To identify whether language impairment exists presymptomatically in genetic frontotemporal dementia (FTD), and if so, the key differences between the main genetic mutation groups. Methods 682 participants from the international multicentre Genetic FTD Initiative (GENFI) study were recruited: 290 asymptomatic and 82 prodromal mutation carriers (with C9orf72, GRN, and MAPT mutations) as well as 310 mutation-negative controls. Language was assessed using items from the Progressive Aphasia Severity Scale, as well as the Boston Naming Test (BNT), modified Camel and Cactus Test (mCCT) and a category fluency task. Participants also underwent a 3 T volumetric T1-weighted MRI from which regional brain volumes within the language network were derived and compared between the groups. Results 3% of asymptomatic (4% C9orf72, 4% GRN, 2% MAPT) and 48% of prodromal (46% C9orf72, 42% GRN, 64% MAPT) mutation carriers had impairment in at least one language symptom compared with 13% of controls. In prodromal mutation carriers significantly impaired word retrieval was seen in all three genetic groups whilst significantly impaired grammar/syntax and decreased fluency was seen only in C9orf72 and GRN mutation carriers, and impaired articulation only in the C9orf72 group. Prodromal MAPT mutation carriers had significant impairment on the category fluency task and the BNT whilst prodromal C9orf72 mutation carriers were impaired on the category fluency task only. Atrophy in the dominant perisylvian language regions differed between groups, with earlier, more widespread volume loss in C9orf72, and later focal atrophy in the temporal lobe in MAPT mutation carriers. Conclusions Language deficits exist in the prodromal but not asymptomatic stages of genetic FTD across all three genetic groups. Improved understanding of the language phenotype prior to phenoconversion to fully symptomatic FTD will help develop outcome measures for future presymptomatic trials. | en_US |
dc.description.sponsorship | The Dementia Research Centre is supported by Alzheimer's Research UK, Alzheimer's Society, Brain Research UK, and The Wolfson Foundation. This work was supported by the National Institute for Health Research (NIHR) Queen Square Dementia Biomedical Research Unit and the University College London Hospitals Biomedical Research Centre, the Leonard Wolfson Experimental Neurology Centre (LWENC) Clinical Research Facility, and the UK Dementia Research Institute, which receives its funding from UK DRI Ltd., funded by the UK Medical Research Council, Alzheimer's Society and Alzheimer's Research UK. This work was also supported by the MRC UK GENFI grant (MR/M023664/1), the Italian Ministry of Health (CoEN015 and Ricerca Corrente), the Canadian Institutes of Health Research as part of a Centres of Excellence in Neurodegeneration grant, a Canadian Institutes of Health Research operating grant, the Alzheimer's Society grant (AS-PG-16-007), the Bluefield Project and the JPND GENFI-PROX grant (2019–02248). MB is supported by a Fellowship award from the Alzheimer's Society, UK (AS-JF-19a-004-517). JDR is supported by the Miriam Marks Brain Research UK Senior Fellowship and has received funding from an MRC Clinician Scientist Fellowship (MR/M008525/1) and the NIHR Rare Disease Translational Research Collaboration (BRC149/NS/MH). JBR is funded by the Wellcome Trust (103838) and the National Institute for Health Research Cambridge Biomedical Research Centre. This work was funded by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) under Germany's Excellence Strategy within the framework of the Munich Cluster for Systems Neurology (EXC 2145 SyNergy – ID 390857198). RV's work is supported by the Mady Browaeys Fonds voor Onderzoek naar Frontotemporale Degeneratie. Several authors of this publication (JCvS, MS, RSV, AD, MO, RV, JDR) are members of the European Reference Network for Rare Neurological Diseases (ERN-RND) - Project ID No 739510. | en_US |
dc.format.extent | 1 - 11 | - |
dc.language | English | - |
dc.language.iso | en_US | en_US |
dc.publisher | Elsevier | en_US |
dc.rights | Copyright © 2023 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY license (https://creativecommons.org/licenses/by/4.0/). | - |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | - |
dc.subject | frontotemporal dementia | en_US |
dc.subject | language | en_US |
dc.subject | genetic | en_US |
dc.subject | progranulin | en_US |
dc.subject | C9orf72 | en_US |
dc.subject | MAPT | en_US |
dc.title | Prodromal language impairment in genetic frontotemporal dementia within the GENFI cohort | en_US |
dc.type | Article | en_US |
dc.identifier.doi | https://doi.org/10.1016/j.jns.2023.120711 | - |
dc.relation.isPartOf | Journal of the Neurological Sciences | - |
pubs.publication-status | Published | - |
dc.identifier.eissn | 1878-5883 | - |
dc.rights.holder | The Authors | - |
Appears in Collections: | Dept of Life Sciences Research Papers |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
FullText.pdf | Copyright © 2023 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY license (https://creativecommons.org/licenses/by/4.0/). | 2.3 MB | Adobe PDF | View/Open |
This item is licensed under a Creative Commons License